Cat Eye Syndrome

Common Name(s)

Cat Eye Syndrome, Cat-Eye Syndrome

Cat Eye syndrome is a rare condition with widely variable features including structural defects of the iris of the eye (coloboma), skin tags near the ear, narrowing or closure of the anus (atresia), defects of the heart or kidneys, and intellectual disability. It occurs when an individual inherits extra genetic material from chromosome 22, known as a marker chromosome, from a parent. The marker chromosome generally arises by chance in the parent, though inheritance from an affected parent directly to a child has been observed. The diagnosis of Cat Eye syndrome depends on finding a marker chromosome by genetic testing.

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Advocacy and Support Organizations

Condition Specific Organizations

Following organizations serve the condition "Cat Eye Syndrome" for support, advocacy or research.

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General Support Organizations

Recommended Apps

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

Finding the right clinical trial for Cat Eye Syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Cat Eye Syndrome" returned 21 free, full-text research articles on human participants.
First 3 results:

A full-term female baby, a product of non-consanguineous marriage, was born at 37 weeks of gestation with a birth weight of 2.08 kg. Antenatal scan at 31 weeks revealed complex congenital heart disease with a hypoplastic right ventricle, pulmonary atresia and an intact septum. ...

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Cat Eye Syndrome" returned 1 free, full-text review articles on human participants.
First 3 results:

According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Cat Eye Syndrome" (open studies are recruiting volunteers) and 0 "Cat Eye Syndrome" studies with "all" status. Visit ClinicalTrials.gov now to view them. Or alternatively, consider TrialsFinder for assistance:

Relief is when you and the right researcher find each other
Finding the right clinical trial for Cat Eye Syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.